Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot
Use
The Tyrosinemia Follow-Up Panel is utilized for the monitoring of individuals with tyrosinemia type 1 (hepatorenal tyrosinemia) using a patient-collected blood spot specimen. This test is intended for the therapeutic monitoring of NTBC (nitisinone) and for dietary monitoring of patients. The test aids in monitoring blood NTBC concentration, succinylacetone (SUAC) levels, and dietary intake of amino acids like tyrosine and phenylalanine to guide individualized patient care plans.
Special Instructions
Not provided.
Limitations
In rare cases, tyrosinemia type 1 may not present with elevated tyrosine or succinylacetone levels, potentially complicating diagnosis. The presence of interfering substances like Bornaprine could affect the accuracy of NTBC measurements. The test also requires careful specimen collection to avoid errors such as serum rings, multiple blood spot layers, or using unapproved filter papers, which will lead to specimen rejection.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94573-3 - TYR NBS f/u + monitor Pnl DBS
- 35571-9 - Tyrosine DBS-sCnc
- 29573-3 - Phe DBS-sCnc
- 47700-0 - Methionine DBS-sCnc
- 53231-7 - Succinylacetone DBS-sCnc
- 85098-2 - NTBC DBS LC/MS/MS-sCnc
- 42349-1
- 18771-6 - Provider signing name
- 56799-0 - Address
- 68997-6
- 46499-0 - State of residence
- 45401-7 - Postal code
- 77983-5 - Country of usual residence
- 42077-8 - Phone #
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Card
Collection Instructions
Order test each time the patient is to collect a dried blood specimen and mail directly to Mayo Clinic Laboratories.
Storage Instructions
Specimen must remain on filter paper; ambient (preferred) for up to 7 days, refrigerated for up to 14 days, or frozen for up to 90 days.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers; insufficient specimen; unapproved filter papers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 14 days |
| Frozen | 90 days |